CDH15 (Cadherin 15)
A calcium-dependent cell adhesion molecule involved in muscle development and associated with cardiomyopathy and intellectual disability.
Gene Information Card
| Symbol | CDH15 |
|---|---|
| Full Name | cadherin 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 1013 ncbi.nlm.nih.gov/gene/1013 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | P55291 |
| OMIM ID | 114019 |
| HGNC ID | 1754 |
| Aliases | CDH14, CDHM, MCAD, M-cadherin |
Description
CDH15 (cadherin 15) encodes a classical cadherin, M-cadherin, a calcium-dependent cell adhesion glycoprotein. It is primarily expressed in skeletal muscle and plays a critical role in myoblast fusion, muscle development, and maintenance. Mutations in CDH15 are associated with autosomal dominant cardiomyopathy and autosomal recessive intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated, 1JJ (CMD1JJ) | Missense mutations impair cell adhesion in cardiac muscle, leading to dilated cardiomyopathy. | OMIM #618658; ClinVar |
| Intellectual disability, autosomal recessive 3 (MRT3) | Homozygous loss-of-function mutations disrupt neuronal cell adhesion and migration. | OMIM #614315; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 12.3 | Medium |
| Brain | 3.1 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 35.2 | High expression; role in myogenesis |
| Cardiomyocytes | 15.8 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1253G>A (p.Arg418His) | Missense | Rare | Dominant negative effect on cell adhesion; associated with dilated cardiomyopathy. |
| c.2T>C (p.Met1Thr) | Start loss | Very rare | Loss of function; homozygous causes intellectual disability. |
| c.184C>T (p.Arg62*) | Nonsense | Rare | Premature stop; loss of function; intellectual disability. |
Mutation functional classification
Loss of Function (LOF)
Homozygous nonsense or start-loss mutations (e.g., p.Met1Thr, p.Arg62*) lead to complete loss of M-cadherin, causing intellectual disability (MRT3).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Arg418His) disrupt cadherin-mediated adhesion in cardiac muscle, leading to dilated cardiomyopathy (CMD1JJ).
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
| • myoblast fusion (GO:0007520) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Arrhythmogenic right ventricular cardiomyopathy (ARVC) – KEGG hsa05412
Protein Summary
M-cadherin (UniProt P55291) is a 794-amino acid single-pass type I membrane protein. It contains five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail that binds catenins to link to the actin cytoskeleton. It mediates calcium-dependent cell-cell adhesion, essential for skeletal muscle fusion and cardiac integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH15 Knockout HEK293 Cell Line | EDJ-KQ4241 | Human | 1013 | Details Get a Quote |
| PCDH15 Knockout HEK293 Cell Line | EDJ-KQ14700 | Human | 65217 | Details Get a Quote |
| CDH15 Knockout HCT 116 Cell Line | EDJ-KQ26710 | Human | 1013 | Details Get a Quote |
| CDH15 Knockout HeLa Cell Line | EDJ-KQ52859 | Human | 1013 | Details Get a Quote |
| PCDH15 Knockout HeLa Cell Line | EDJ-KQ57103 | Human | 65217 | Details Get a Quote |
| CDH15 Knockout A-549 Cell Line | EDJ-KQ61327 | Human | 1013 | Details Get a Quote |
| PCDH15 Knockout A-549 Cell Line | EDJ-KQ65618 | Human | 65217 | Details Get a Quote |
| PCDH15 Knockout HCT 116 Cell Line | EDJ-KQ74043 | Human | 65217 | Details Get a Quote |
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